Canonical Allele Identifier: CA1315430298
Gene: COL5A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189062797_189062798delinsAC , CM000664.2:g.189062797_189062798delinsAC GRCh38
NC_000002.11:g.189927523_189927524delinsAC , CM000664.1:g.189927523_189927524delinsAC GRCh37
NC_000002.10:g.189635768_189635769delinsAC NCBI36
NG_011799.1:g.122082_122083delinsGT
NG_011799.2:g.122082_122083delinsGT
NG_011799.3:g.167504_167505delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.1977+67_1977+68delinsGT MANE Select ENSP00000364000.3:n.1977+67_1977+68delinsGT
ENST00000374866.7:c.1977+67_1977+68delinsGT ENSP00000364000.3:n.1977+67_1977+68delinsGT
ENST00000470524.2:n.83+67_83+68delinsGT
ENST00000618828.1:c.816+67_816+68delinsGT ENSP00000482184.1:n.816+67_816+68delinsGT
NM_000393.3:c.1977+67_1977+68delinsGT NP_000384.2:n.1977+67_1977+68delinsGT
XM_011510573.1:c.1839+67_1839+68delinsGT XP_011508875.1:n.1839+67_1839+68delinsGT
NM_000393.4:c.1977+67_1977+68delinsGT NP_000384.2:n.1977+67_1977+68delinsGT
XM_011510573.3:c.1839+67_1839+68delinsGT XP_011508875.1:n.1839+67_1839+68delinsGT
NM_000393.5:c.1977+67_1977+68delinsGT MANE Select NP_000384.2:n.1977+67_1977+68delinsGT
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